Canonical Allele Identifier: CA361257482
Community Standard Title: NM_002109.6(HARS1):c.397G>T (p.Val133Phe)
Gene: HARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140679127C>A , CM000667.2:g.140679127C>A GRCh38
NC_000005.9:g.140058712C>A , CM000667.1:g.140058712C>A GRCh37
NC_000005.8:g.140038896C>A NCBI36
NG_032158.1:g.17260G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002109.6:c.397G>T MANE Select NP_002100.2:p.Val133Phe
ENST00000504156.7:c.397G>T MANE Select ENSP00000425634.1:p.Val133Phe
NM_001258040.2:c.277G>T NP_001244969.1:p.Val93Phe
NM_001258040.3:c.277G>T NP_001244969.1:p.Val93Phe
NM_001258041.2:c.397G>T NP_001244970.1:p.Val133Phe
NM_001258041.3:c.397G>T NP_001244970.1:p.Val133Phe
NM_001258042.2:c.277G>T NP_001244971.1:p.Val93Phe
NM_001258042.3:c.277G>T NP_001244971.1:p.Val93Phe
NM_001289092.1:c.301-1112G>T NP_001276021.1:n.301-1112G>T
NM_001289092.2:c.301-1112G>T NP_001276021.1:n.301-1112G>T
NM_001289093.1:c.181-1112G>T NP_001276022.1:n.181-1112G>T
NM_001289093.2:c.181-1112G>T NP_001276022.1:n.181-1112G>T
NM_001289094.1:c.310G>T NP_001276023.1:p.Val104Phe
NM_001289094.2:c.310G>T NP_001276023.1:p.Val104Phe
NM_002109.5:c.397G>T NP_002100.2:p.Val133Phe
ENST00000307633.7:c.277G>T ENSP00000304668.3:p.Val93Phe
ENST00000415192.6:c.301-1112G>T ENSP00000411085.2:n.301-1112G>T
ENST00000431330.6:c.181-1112G>T ENSP00000393244.2:n.181-1112G>T
ENST00000431330.7:c.181-1112G>T ENSP00000393244.2:n.181-1112G>T
ENST00000438307.6:c.277G>T ENSP00000411511.2:p.Val93Phe
ENST00000457527.6:c.397G>T ENSP00000387893.2:p.Val133Phe
ENST00000504156.5:c.397G>T ENSP00000425634.1:p.Val133Phe
ENST00000504366.5:c.190G>T ENSP00000430063.1:p.Val64Phe
ENST00000506579.5:n.314G>T
ENST00000506579.6:n.482G>T
ENST00000507746.5:c.301-1374G>T ENSP00000425889.1:n.301-1374G>T
ENST00000507746.7:c.397G>T ENSP00000425889.2:p.Val133Phe
ENST00000509087.2:c.181-3994G>T ENSP00000502781.1:n.181-3994G>T
ENST00000512396.5:c.*336G>T ENSP00000421576.1:n.*336G>T
ENST00000512396.6:c.*336G>T ENSP00000421576.1:n.*336G>T
ENST00000518126.6:n.1096G>T
ENST00000643686.1:c.*452G>T ENSP00000493611.1:n.*452G>T
ENST00000645491.1:c.*330G>T ENSP00000494297.1:n.*330G>T
ENST00000646229.1:c.448G>T
ENST00000674523.1:c.397G>T ENSP00000501816.1:p.Val133Phe
ENST00000675094.1:n.482G>T
ENST00000675204.1:c.397G>T ENSP00000501643.1:p.Val133Phe
ENST00000675355.1:n.242G>T
ENST00000675366.1:c.397G>T ENSP00000501747.1:p.Val133Phe
ENST00000675698.1:c.190G>T ENSP00000501581.1:p.Val64Phe
ENST00000675763.1:n.1318G>T
ENST00000675827.1:c.397G>T ENSP00000501900.1:p.Val133Phe
ENST00000675851.1:c.301-1374G>T ENSP00000502624.1:n.301-1374G>T
ENST00000675898.1:n.1229G>T
ENST00000675967.1:n.871G>T
ENST00000676327.1:c.397G>T ENSP00000502594.1:p.Val133Phe